Cargando…

Oculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report()

Detalles Bibliográficos
Autores principales:	Maeda, Marilia Yuri, Hashimoto, Tais Yuri, Oliveira Neto, Isabella Christina, Neves, Luciano Rodrigues
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2015
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9442695/ https://www.ncbi.nlm.nih.gov/pubmed/26616227 http://dx.doi.org/10.1016/j.bjorl.2015.07.019

Ejemplares similares

Recent Progress in Oculopharyngeal Muscular Dystrophy
por: Yamashita, Satoshi
Publicado: (2021)

Oculopharyngeal muscular dystrophy as a rare cause of dysphagia
por: Werling, Sarah, et al.
Publicado: (2015)

Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
por: Ogasawara, Masashi, et al.
Publicado: (2022)

Oculopharyngeal Muscular Dystrophy as a Paradigm for Muscle Aging
por: Raz, Yotam, et al.
Publicado: (2014)

PABPN1 gene therapy for oculopharyngeal muscular dystrophy
por: Malerba, A., et al.
Publicado: (2017)

Behavioural Impairment and Frontotemporal Dementia in Oculopharyngeal Muscular Dystrophy
por: Tankink, Maurits, et al.
Publicado: (2022)

Dysphagia with fatal choking in oculopharyngeal muscular dystrophy: Case report
por: Chen, Andy Wei-Ge, et al.
Publicado: (2018)

Swallowing, Chewing and Speaking: Frequently Impaired in Oculopharyngeal Muscular Dystrophy
por: Kroon, Rosemarie H.M.J.M., et al.
Publicado: (2020)

Muscle ultrasound is a sensitive biomarker in oculopharyngeal muscular dystrophy
por: Kroon, Rosemarie H. M. J. M., et al.
Publicado: (2022)

The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy
por: Lin, Feng, et al.
Publicado: (2023)

Age-Associated Salivary MicroRNA Biomarkers for Oculopharyngeal Muscular Dystrophy
por: Raz, Vered, et al.
Publicado: (2020)

Inhibition of myostatin improves muscle atrophy in oculopharyngeal muscular dystrophy (OPMD)
por: Harish, Pradeep, et al.
Publicado: (2019)

Oculopharyngeal muscular dystrophy misdiagnosed as myasthenia gravis: Case report and review of literature
por: Aryani, Omid, et al.
Publicado: (2017)

Oculopharyngeal muscular dystrophy as a rare differential diagnosis for unexplained dysphagia: a case report
por: Bumm, Klaus, et al.
Publicado: (2009)

Choked: A Case Report of Oculopharyngeal Muscular Dystrophy Mimicking Hypothyroidism From the Philippines
por: Infante, Jerome M, et al.
Publicado: (2023)

Correlation between PABPN1 genotype and disease severity in oculopharyngeal muscular dystrophy
por: Richard, Pascale, et al.
Publicado: (2017)

RNA-Based Therapy Utilizing Oculopharyngeal Muscular Dystrophy Transcript Knockdown and Replacement
por: Abu-Baker, Aida, et al.
Publicado: (2019)

Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy
por: Raz, Vered, et al.
Publicado: (2013)

Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy
por: Ribot, Cécile, et al.
Publicado: (2022)

Oculopharyngeal muscular dystrophy mutations link the RNA‐binding protein HNRNPQ to autophagosome biogenesis
por: Ishtayeh, Hasan, et al.
Publicado: (2023)

An Antibody to Detect Alanine-Expanded PABPN1: A New Tool to Study Oculopharyngeal Muscular Dystrophy
por: Vest, Katherine E., et al.
Publicado: (2015)

P-7 Clinical and electrophysiological feature of 13 Italian patients with oculopharyngeal muscular dystrophy (OPMD)
por: Fiorillo, C., et al.
Publicado: (2011)

2396: Utility of the Modified Barium Swallow Impairment Profile as an outcome measure in oculopharyngeal muscular dystrophy
por: Youssof, Sarah, et al.
Publicado: (2018)

BB-301: a silence and replace AAV-based vector for the treatment of oculopharyngeal muscular dystrophy
por: Strings-Ufombah, Vanessa, et al.
Publicado: (2021)

Longitudinal Assessment of Strength, Functional Capacity, Oropharyngeal Function, and Quality of Life in Oculopharyngeal Muscular Dystrophy
por: Kroon, Rosemarie H.M.J.M., et al.
Publicado: (2021)

Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy
por: Davies, Janet E., et al.
Publicado: (2011)

Antiprion drugs 6-aminophenanthridine and guanabenz reduce PABPN1 toxicity and aggregation in oculopharyngeal muscular dystrophy
por: Barbezier, Nicolas, et al.
Publicado: (2011)

Lithium chloride attenuates cell death in oculopharyngeal muscular dystrophy by perturbing Wnt/β-catenin pathway
por: Abu-Baker, A, et al.
Publicado: (2013)

Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
por: Kim, Hong Joo, et al.
Publicado: (2022)

Pharyngeal pathology in a mouse model of oculopharyngeal muscular dystrophy is associated with impaired basal autophagy in myoblasts
por: Zhang, Yu, et al.
Publicado: (2022)

Mitochondrial Dysfunction Reveals the Role of mRNA Poly(A) Tail Regulation in Oculopharyngeal Muscular Dystrophy Pathogenesis
por: Chartier, Aymeric, et al.
Publicado: (2015)

Inhibition of Myostatin Reduces Collagen Deposition in a Mouse Model of Oculopharyngeal Muscular Dystrophy (OPMD) With Established Disease
por: Harish, Pradeep, et al.
Publicado: (2020)

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy –Consequences in Clinical Diagnosis and Genetic Counselling
por: Richard, Pascale, et al.
Publicado: (2015)

The small compound Icerguastat reduces muscle defects in oculopharyngeal muscular dystrophy through the PERK pathway of the unfolded protein response
por: Naït-Saïdi, Rima, et al.
Publicado: (2023)

Assessment of PABPN1 nuclear inclusions on a large cohort of patients and in a human xenograft model of oculopharyngeal muscular dystrophy
por: Roth, Fanny, et al.
Publicado: (2022)

Novel Metabolomic Approach for Identifying Pathology-Specific Biomarkers in Rare Diseases: A Case Study in Oculopharyngeal Muscular Dystrophy (OPMD)
por: Harish, Pradeep, et al.
Publicado: (2023)

An Oculopharyngeal Subtype of Guillain-Barré Syndrome Sparing the Trochlear and Abducens Nerves
por: Arakawa, Masafumi, et al.
Publicado: (2020)

Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles
por: Chen, Ting, et al.
Publicado: (2016)

A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G > C; p.Gly12Ala point mutation
por: Nishii, Yo-suke, et al.
Publicado: (2021)

A decline in PABPN1 induces progressive muscle weakness in Oculopharyngeal muscle dystrophy and in muscle aging
por: Anvar, Seyed Yahya, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_1an6i2hfhv147pt9vdrjevv5rm